#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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_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_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
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								2235	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C			2235		RNA	SNP	-	NULL		37	NULL		MT																																																																																			-	-	0	0					ENSG00000210082			T			2235	+1	no_errors	ENST00000387347	ensembl	human	known	54_36p	rna	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								7944	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C			7944		Missense_Mutation	SNP	HMMPfam_COX2_TM,superfamily_Cytochrome c oxidase subunit II-like transmembrane region,superfamily_Cupredoxins,HMMPfam_COX2,PatternScan_COX2	p.S120P		37	c.358		MT																																																																																			-	superfamily_Cupredoxins,HMMPfam_COX2	0	0					MT-CO2			T			7944	+1	no_errors	ENST00000361739	ensembl	human	known	54_36p	missense	SNP	NULL	C
C16orf13	84326	genome.wustl.edu	37	16	686168	686168	+	Missense_Mutation	SNP	G	G	T	rs182493474		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr16:686168G>T	ENST00000301686.8	-	1	134	c.123C>A	c.(121-123)caC>caA	p.H41Q	C16orf13_ENST00000338401.4_Missense_Mutation_p.H41Q|C16orf13_ENST00000397664.4_Missense_Mutation_p.H41Q|C16orf13_ENST00000397665.2_Missense_Mutation_p.H41Q|C16orf13_ENST00000397666.2_Missense_Mutation_p.H41Q	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13	41										large_intestine(1)	1		Hepatocellular(780;0.00335)				AGTGCGCTGCGTGCTGGCCGG	0.726																																																0			16											8.0	9.0	8.0					16																	686168		1648	3032	4680	626169	SO:0001583	missense	84326				CCDS32352.1, CCDS42090.1, CCDS42091.1, CCDS45367.1, CCDS45368.1, CCDS73798.1	16p13.3	2012-10-09			ENSG00000130731	ENSG00000130731			14141	protein-coding gene	gene with protein product							Standard	NM_001040160		Approved	MGC13114	uc002chw.1	Q96S19	OTTHUMG00000047855	ENST00000301686.8:c.123C>A	16.37:g.686168G>T	ENSP00000445926:p.His41Gln		626169	A8MTR1|A8MWJ8|A8MZA1|B4DG95|B4DIJ3|D6REA6|F6TF62|F6VM53|Q96IW1|Q96MD6	Missense_Mutation	SNP	HMMPfam_DUF938,superfamily_S-adenosyl-L-methionine-dependent methyltransferases	p.H41Q	ENST00000301686.8	37	c.123	CCDS45368.1	16	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177590	0.57692	.	.	ENSG00000130731	ENST00000397666;ENST00000397665;ENST00000301686;ENST00000397664;ENST00000338401	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.02	-0.693	0.11298	.	0.000000	0.85682	D	0.000000	T	0.76176	0.3951	M	0.88512	2.96	0.39742	D	0.971765	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	0.99;1.0;0.966;0.998;1.0	T	0.74206	-0.3740	10	0.87932	D	0	-51.2482	5.6006	0.17351	0.4113:0.0:0.4593:0.1294	.	41;41;41;41;41	Q96S19-3;D6REA6;F6TF62;F6VM53;Q96S19	.;.;.;.;CP013_HUMAN	Q	41	ENSP00000440765:H41Q;ENSP00000444460:H41Q;ENSP00000445926:H41Q;ENSP00000440475:H41Q;ENSP00000444140:H41Q	ENSP00000445926:H41Q	H	-	3	2	Z84479.1	626169	0.015000	0.18098	0.414000	0.26521	0.662000	0.39071	-0.115000	0.10741	0.041000	0.15688	0.491000	0.48974	CAC	-	HMMPfam_DUF938,superfamily_S-adenosyl-L-methionine-dependent methyltransferases		0.726	C16orf13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf13	protein_coding	OTTHUMT00000109081.2	G	NM_001040160		626169	-1	no_errors	NM_001040160	genbank	human	validated	54_36p	missense	SNP	0.408	T
ATP2A3	489	genome.wustl.edu	37	17	3850844	3850844	+	Silent	SNP	C	C	A	rs374049814		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr17:3850844C>A	ENST00000352011.3	-	8	990	c.936G>T	c.(934-936)ccG>ccT	p.P312P	ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000397035.3_Silent_p.P312P|ATP2A3_ENST00000359983.3_Silent_p.P312P|ATP2A3_ENST00000309890.7_Silent_p.P312P|ATP2A3_ENST00000397043.3_Silent_p.P312P|ATP2A3_ENST00000397041.3_Silent_p.P312P			Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	312					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGATGACAGCCGGGAGGCCCT	0.697																																					GBM(32;29 774 15719 37967)											0			17											44.0	42.0	42.0					17																	3850844		2203	4297	6500	3797593	SO:0001819	synonymous_variant	489				CCDS11041.1, CCDS11042.1, CCDS42234.1, CCDS45579.1, CCDS45580.1	17p13.3	2012-10-22			ENSG00000074370	ENSG00000074370	3.6.3.8	"""ATPases / P-type"""	813	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 3"", ""calcium pump 3"""	601929				8809064	Standard	NM_005173		Approved	SERCA3	uc002fwy.2	Q93084		ENST00000352011.3:c.936G>T	17.37:g.3850844C>A			3797593	A8MZG0|D3DTJ8|O60900|O60901|O75501|O75502|Q16115|Q6JHX1|Q8TEX5|Q8TEX6	Silent	SNP	superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_HAD-like,HMMPfam_Cation_ATPase_C	p.P312	ENST00000352011.3	37	c.936	CCDS11041.1	17																																																																																			-	superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase		0.697	ATP2A3-015	KNOWN	basic|CCDS	protein_coding	ATP2A3	protein_coding	OTTHUMT00000438401.1	C	NM_174953		3797593	-1	no_errors	NM_174953	genbank	human	reviewed	54_36p	silent	SNP	0.619	A
ZNF12	7559	genome.wustl.edu	37	7	6731854	6731854	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr7:6731854G>T	ENST00000405858.1	-	5	1260	c.719C>A	c.(718-720)cCc>cAc	p.P240H	AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.P166H|ZNF12_ENST00000342651.5_Missense_Mutation_p.P202H	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	240					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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CCACTTATAGGGCTTTTCTTC	0.378																																																0			7											52.0	55.0	54.0					7																	6731854		2045	4237	6282	6698379	SO:0001583	missense	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.719C>A	7.37:g.6731854G>T	ENSP00000385939:p.Pro240His		6698379	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.P240H	ENST00000405858.1	37	c.719	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878693	0.72294	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	T;T;T	0.65178	-0.14;1.3;1.3	4.03	4.03	0.46877	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42821	D	0.000649	T	0.70002	0.3174	M	0.62154	1.92	0.44825	D	0.997836	D;D	0.71674	0.998;0.995	P;P	0.54759	0.76;0.737	T	0.74914	-0.3502	10	0.87932	D	0	.	14.4789	0.67567	0.0:0.0:1.0:0.0	.	240;202	P17014;P17014-5	ZNF12_HUMAN;.	H	166;240;202;298;204	ENSP00000384405:P166H;ENSP00000385939:P240H;ENSP00000344745:P202H	ENSP00000331039:P204H	P	-	2	0	ZNF12	6698379	0.998000	0.40836	0.948000	0.38648	0.997000	0.91878	3.672000	0.54583	2.531000	0.85337	0.563000	0.77884	CCC	-	superfamily_SSF57667		0.378	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	protein_coding	OTTHUMT00000324373.2	G	NM_016265		6698379	-1	no_errors	NM_016265	genbank	human	reviewed	54_36p	missense	SNP	0.962	T
GPR143	4935	genome.wustl.edu	37	X	9711702	9711702	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chrX:9711702G>A	ENST00000467482.1	-	6	816	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	GPR143_ENST00000380929.2_Missense_Mutation_p.L244F			P51810	GP143_HUMAN	G protein-coupled receptor 143	224	Necessary for its G protein-activation ability and normal distribution of melanosomes.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CTTCCTTTAAGTAAAGAGGCC	0.428																																																0			X											131.0	111.0	118.0					X																	9711702		2203	4299	6502	9671702	SO:0001583	missense	4935			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.670C>T	X.37:g.9711702G>A	ENSP00000417161:p.Leu224Phe		9671702	Q6NTI7	Missense_Mutation	SNP	HMMPfam_Ocular_alb	p.L244F	ENST00000467482.1	37	c.730	CCDS14134.2	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.20|17.20	3.329049|3.329049	0.60743|0.60743	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000467482;ENST00000380929;ENST00000431126|ENST00000447366	D;D;D|.	0.99466|.	-5.95;-5.95;-5.95|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76335|0.76335	0.3973|0.3973	M|M	0.78456|0.78456	2.415|2.415	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.77778|0.77778	-0.2460|-0.2460	10|5	0.51188|.	T|.	0.08|.	-16.3032|-16.3032	16.3904|16.3904	0.83533|0.83533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	224|.	P51810|.	GP143_HUMAN|.	F|I	224;244;140|159	ENSP00000417161:L224F;ENSP00000370316:L244F;ENSP00000406138:L140F|.	ENSP00000370316:L244F|.	L|T	-|-	1|2	0|0	GPR143|GPR143	9671702|9671702	1.000000|1.000000	0.71417|0.71417	0.166000|0.166000	0.22797|0.22797	0.221000|0.221000	0.24807|0.24807	5.362000|5.362000	0.66098|0.66098	2.124000|2.124000	0.65301|0.65301	0.513000|0.513000	0.50165|0.50165	CTT|ACT	-	HMMPfam_Ocular_alb		0.428	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	protein_coding	OTTHUMT00000055714.2	G	NM_000273		9671702	-1	no_errors	NM_000273	genbank	human	reviewed	54_36p	missense	SNP	0.999	A
HS3ST1	9957	genome.wustl.edu	37	4	11401466	11401466	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr4:11401466G>A	ENST00000002596.5	-	2	1338	c.164C>T	c.(163-165)cCg>cTg	p.P55L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	55					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GATGGTCTGCGGCAACTGCTG	0.697																																																0			4											32.0	29.0	30.0					4																	11401466		2202	4298	6500	11010564	SO:0001583	missense	9957			AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.164C>T	4.37:g.11401466G>A	ENSP00000002596:p.Pro55Leu		11010564	B3KUA6|Q6PEY8	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1	p.P55L	ENST00000002596.5	37	c.164	CCDS3408.1	4	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286759	0.80803	.	.	ENSG00000002587	ENST00000002596;ENST00000514690;ENST00000510712	T;T;T	0.66460	-0.21;-0.21;-0.21	5.57	5.57	0.84162	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.88526	0.6460	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92051	0.5648	10	0.87932	D	0	.	18.5452	0.91043	0.0:0.0:1.0:0.0	.	55	O14792	HS3S1_HUMAN	L	55	ENSP00000002596:P55L;ENSP00000425673:P55L;ENSP00000422629:P55L	ENSP00000002596:P55L	P	-	2	0	HS3ST1	11010564	1.000000	0.71417	0.993000	0.49108	0.671000	0.39405	9.869000	0.99810	2.630000	0.89119	0.655000	0.94253	CCG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1		0.697	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST1	protein_coding	OTTHUMT00000207073.3	G	NM_005114		11010564	-1	no_errors	NM_005114	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
EMR3	84658	genome.wustl.edu	37	19	14758001	14758001	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:14758001G>C	ENST00000253673.5	-	8	974	c.874C>G	c.(874-876)Cac>Gac	p.H292D	EMR3_ENST00000599900.1_Missense_Mutation_p.H77D|EMR3_ENST00000344373.4_Missense_Mutation_p.H240D|EMR3_ENST00000443157.2_Missense_Mutation_p.H166D	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	292					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						ACCTTCACGTGCTGGAAAGTC	0.493																																																0			19											252.0	216.0	228.0					19																	14758001		2203	4300	6503	14619001	SO:0001583	missense	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.874C>G	19.37:g.14758001G>C	ENSP00000253673:p.His292Asp		14619001		Missense_Mutation	SNP	HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.H292D	ENST00000253673.5	37	c.874	CCDS12315.1	19	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868430	0.32977	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.61510	0.73;0.1;0.77	3.94	1.69	0.24217	.	.	.	.	.	T	0.67230	0.2871	L	0.60455	1.87	0.09310	N	1	P;P;D	0.57899	0.924;0.954;0.981	P;P;D	0.63793	0.836;0.804;0.918	T	0.56050	-0.8043	9	0.72032	D	0.01	.	8.803	0.34920	0.0:0.0:0.5911:0.4089	.	166;240;292	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	D	166;292;240	ENSP00000396208:H166D;ENSP00000253673:H292D;ENSP00000340758:H240D	ENSP00000253673:H292D	H	-	1	0	EMR3	14619001	0.274000	0.24191	0.003000	0.11579	0.021000	0.10359	1.403000	0.34612	0.151000	0.19162	-0.194000	0.12790	CAC	-	NULL		0.493	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	protein_coding	OTTHUMT00000466488.1	G	NM_032571		14619001	-1	no_errors	NM_032571	genbank	human	reviewed	54_36p	missense	SNP	0.008	C
EMR3	84658	genome.wustl.edu	37	19	14774264	14774264	+	Silent	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:14774264C>T	ENST00000253673.5	-	3	265	c.165G>A	c.(163-165)caG>caA	p.Q55Q	EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Silent_p.Q55Q|EMR3_ENST00000443157.2_Silent_p.Q55Q	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	55	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TGAATAGTTTCTGCCCAGATC	0.383																																																0			19											98.0	85.0	90.0					19																	14774264		2203	4300	6503	14635264	SO:0001819	synonymous_variant	84658			AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.165G>A	19.37:g.14774264C>T			14635264		Silent	SNP	PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_G_PROTEIN_RECEP_F2_2,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Family A G protein-coupled receptor-like	p.Q55	ENST00000253673.5	37	c.165	CCDS12315.1	19																																																																																			-	HMMSmart_SM00181		0.383	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR3	protein_coding	OTTHUMT00000466488.1	C	NM_032571		14635264	-1	no_errors	NM_032571	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
OR7A10	390892	genome.wustl.edu	37	19	14952576	14952576	+	Silent	SNP	A	A	T	rs200402196		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:14952576A>T	ENST00000248058.1	-	1	113	c.114T>A	c.(112-114)acT>acA	p.T38T		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T38T(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TCCCGAGCACAGTGACCAGGT	0.488																																																1	Substitution - coding silent(1)	stomach(1)	19											68.0	65.0	66.0					19																	14952576		2203	4299	6502	14813576	SO:0001819	synonymous_variant	390892				CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.114T>A	19.37:g.14952576A>T			14813576	Q6IFP0|Q96R97	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.T38	ENST00000248058.1	37	c.114	CCDS32936.1	19																																																																																			-	superfamily_SSF81321		0.488	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A10	protein_coding	OTTHUMT00000466520.1	A	NM_001005190		14813576	-1	no_errors	NM_001005190	genbank	human	provisional	54_36p	silent	SNP	0.001	T
CYFIP1	23191	genome.wustl.edu	37	15	22955196	22955196	+	Silent	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr15:22955196C>T	ENST00000313077.7	+	15	1715	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	CYFIP1_ENST00000435939.2_5'Flank|CYFIP1_ENST00000560848.1_Silent_p.D530D	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		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;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCTTCAATGACCCAGCCTTGC	0.617																																																0			15											71.0	69.0	70.0					15																	22955196		2203	4300	6503	20506637	SO:0001819	synonymous_variant	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1590C>T	15.37:g.22955196C>T			20506637		Silent	SNP	HMMPfam_FragX_IP	p.D530	ENST00000313077.7	37	c.1590	CCDS10009.1	15																																																																																			-	HMMPfam_FragX_IP		0.617	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	protein_coding	OTTHUMT00000251136.2	C	NM_014608		20506637	+1	no_errors	NM_014608	genbank	human	validated	54_36p	silent	SNP	1.000	T
DNAH3	55567	genome.wustl.edu	37	16	20976434	20976434	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr16:20976434C>G	ENST00000261383.3	-	53	8771	c.8772G>C	c.(8770-8772)caG>caC	p.Q2924H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2924	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)		CTGCTCTTTTCTGGTTCAGCT	0.547																																																0			16											178.0	167.0	170.0					16																	20976434		2201	4300	6501	20883935	SO:0001583	missense	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.8772G>C	16.37:g.20976434C>G	ENSP00000261383:p.Gln2924His		20883935	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_Prefoldin,HMMPfam_Dynein_heavy	p.Q2924H	ENST00000261383.3	37	c.8772	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	1.309	-0.602760	0.03744	.	.	ENSG00000158486	ENST00000261383	T	0.74526	-0.85	5.93	2.42	0.29668	Dynein heavy chain, coiled coil stalk (1);	0.742229	0.12787	N	0.439145	T	0.68274	0.2983	L	0.29908	0.895	0.80722	D	1	D	0.55385	0.971	P	0.51229	0.663	T	0.65207	-0.6224	10	0.56958	D	0.05	.	7.0111	0.24863	0.0:0.5331:0.2569:0.21	.	2924	Q8TD57	DYH3_HUMAN	H	2924	ENSP00000261383:Q2924H	ENSP00000261383:Q2924H	Q	-	3	2	DNAH3	20883935	0.182000	0.23173	0.993000	0.49108	0.054000	0.15201	0.677000	0.25262	0.819000	0.34492	0.655000	0.94253	CAG	-	superfamily_Prefoldin		0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	C	NM_017539		20883935	-1	no_errors	NM_017539	genbank	human	provisional	54_36p	missense	SNP	0.436	G
PIGV	55650	genome.wustl.edu	37	1	27124321	27124321	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:27124321C>G	ENST00000374145.1	+	4	2150	c.1468C>G	c.(1468-1470)Ctg>Gtg	p.L490V	PIGV_ENST00000078527.4_Missense_Mutation_p.L490V|PIGV_ENST00000449950.2_Missense_Mutation_p.L262V	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	490					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|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)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TTGCAACTTCCTGCCTTGGAC	0.488																																																0			1											95.0	91.0	92.0					1																	27124321		2203	4300	6503	26996908	SO:0001583	missense	55650			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.1468C>G	1.37:g.27124321C>G	ENSP00000363260:p.Leu490Val		26996908	D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Missense_Mutation	SNP	HMMPfam_Mannosyl_trans2	p.L490V	ENST00000374145.1	37	c.1468	CCDS287.1	1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.581163	0.65992	.	.	ENSG00000060642	ENST00000078527;ENST00000449950;ENST00000374145	D;D;D	0.86230	-2.09;-2.09;-2.09	5.38	4.47	0.54385	.	0.075334	0.53938	D	0.000054	D	0.92848	0.7725	M	0.86953	2.85	0.47341	D	0.999398	D;D	0.69078	0.992;0.997	D;D	0.71870	0.937;0.975	D	0.92832	0.6281	9	.	.	.	-5.4927	8.8848	0.35396	0.0:0.7911:0.0:0.2089	.	490;262	Q9NUD9;B4DWP9	PIGV_HUMAN;.	V	490;262;490	ENSP00000078527:L490V;ENSP00000395156:L262V;ENSP00000363260:L490V	.	L	+	1	2	PIGV	26996908	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.643000	0.37217	1.502000	0.48669	0.462000	0.41574	CTG	-	HMMPfam_Mannosyl_trans2		0.488	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGV	protein_coding	OTTHUMT00000011441.1	C	NM_017837		26996908	+1	no_errors	NM_017837	genbank	human	validated	54_36p	missense	SNP	1.000	G
GSG1L	146395	genome.wustl.edu	37	16	27818807	27818807	+	Splice_Site	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr16:27818807C>T	ENST00000447459.2	-	6	983		c.e6+1		GSG1L_ENST00000380898.2_Splice_Site|GSG1L_ENST00000569166.1_Splice_Site|GSG1L_ENST00000395724.3_Splice_Site|GSG1L_ENST00000380897.3_Splice_Site	NM_001109763.1	NP_001103233.1	Q6UXU4	GSG1L_HUMAN	GSG1-like						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	asymmetric synapse (GO:0032279)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(2)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGGCCACTTACGGGCAGGGTA	0.532																																																2	Unknown(2)	lung(2)	16											73.0	58.0	63.0					16																	27818807		2196	4300	6496	27726308	SO:0001630	splice_region_variant	146395			AK128775	CCDS10631.1, CCDS45450.1	16p11.2	2014-01-20			ENSG00000169181	ENSG00000169181			28283	protein-coding gene	gene with protein product						22813734	Standard	NM_001109763		Approved	MGC18079, PRO19651, KTSR5831	uc002doz.2	Q6UXU4	OTTHUMG00000131676	ENST00000447459.2:c.898+1G>A	16.37:g.27818807C>T			27726308	Q7Z6F8|Q8TB81	Splice_Site	SNP	-	e6+1	ENST00000447459.2	37	c.898+1	CCDS45450.1	16	.	.	.	.	.	.	.	.	.	.	C	13.34	2.207193	0.39003	.	.	ENSG00000169181	ENST00000447459;ENST00000395724;ENST00000380898;ENST00000380897	.	.	.	3.81	3.81	0.43845	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.5171	0.50529	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GSG1L	27726308	1.000000	0.71417	1.000000	0.80357	0.452000	0.32318	3.232000	0.51302	2.426000	0.82243	0.561000	0.74099	.	-	-		0.532	GSG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG1L	protein_coding	OTTHUMT00000433832.2	C	NM_144675	Intron	27726308	-1	no_errors	NM_001109763	genbank	human	validated	54_36p	splice_site	SNP	0.997	T
AP1B1	162	genome.wustl.edu	37	22	29724827	29724827	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr22:29724827T>C	ENST00000405198.1	-	22	2864	c.2833A>G	c.(2833-2835)Acc>Gcc	p.T945A	AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000415447.1_Missense_Mutation_p.T935A|AP1B1_ENST00000432560.2_Missense_Mutation_p.T935A|AP1B1_ENST00000356015.2_Missense_Mutation_p.T938A|AP1B1_ENST00000317368.7_Missense_Mutation_p.T915A|AP1B1_ENST00000357586.2_Missense_Mutation_p.T945A|AP1B1_ENST00000402502.1_Missense_Mutation_p.T935A			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	945					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|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)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTGAGGATGGTCTCGTAGGCC	0.667																																																0			22											67.0	54.0	58.0					22																	29724827		2203	4299	6502	28054827	SO:0001583	missense	162			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2833A>G	22.37:g.29724827T>C	ENSP00000384194:p.Thr945Ala		28054827	C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_Adaptin_N,HMMSmart_SM00185,superfamily_Clathrin adaptor appendage domain,HMMSmart_SM00809,HMMPfam_Alpha_adaptinC2,superfamily_Subdomain of clathrin and coatomer appendage domain,HMMPfam_B2-adapt-app_C	p.T945A	ENST00000405198.1	37	c.2833	CCDS13855.1	22	.	.	.	.	.	.	.	.	.	.	t	11.74	1.728767	0.30593	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.21191	2.03;2.02;2.03;2.03;2.09;2.03;2.03	5.43	5.43	0.79202	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.215849	0.48767	D	0.000163	T	0.08891	0.0220	N	0.03115	-0.41	0.35909	D	0.830945	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.001;0.001;0.002;0.001	T	0.12760	-1.0535	10	0.05525	T	0.97	-44.3308	14.4775	0.67557	0.0:0.0:0.0:1.0	.	495;915;938;945;935	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3	.;.;.;AP1B1_HUMAN;.	A	945;938;935;945;915;935;935	ENSP00000350199:T945A;ENSP00000348297:T938A;ENSP00000400065:T935A;ENSP00000384194:T945A;ENSP00000319361:T915A;ENSP00000386071:T935A;ENSP00000387612:T935A	ENSP00000319361:T915A	T	-	1	0	AP1B1	28054827	0.367000	0.25023	1.000000	0.80357	0.996000	0.88848	0.649000	0.24843	2.073000	0.62155	0.473000	0.43528	ACC	-	superfamily_Subdomain of clathrin and coatomer appendage domain,HMMPfam_B2-adapt-app_C		0.667	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	protein_coding	OTTHUMT00000321374.1	T	NM_001127		28054827	-1	no_errors	NM_001127	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
TRNAU1AP	54952	genome.wustl.edu	37	1	28891299	28891299	+	Silent	SNP	C	C	T	rs369255848		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:28891299C>T	ENST00000373830.3	+	5	389	c.363C>T	c.(361-363)ccC>ccT	p.P121P	TRNAU1AP_ENST00000495995.1_3'UTR	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	121	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P121P(1)		breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						AAGTCTACCCCTCCTGTCGGG	0.507																																																1	Substitution - coding silent(1)	skin(1)	1						C		0,4406		0,0,2203	198.0	182.0	187.0		363	1.8	1.0	1		187	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRNAU1AP	NM_017846.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/288	28891299	1,13005	2203	4300	6503	28763886	SO:0001819	synonymous_variant	54952				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.363C>T	1.37:g.28891299C>T			28763886	Q86SU7	Silent	SNP	HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1	p.P121	ENST00000373830.3	37	c.363	CCDS324.1	1																																																																																			-	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1		0.507	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	protein_coding	OTTHUMT00000010346.1	C	NM_017846		28763886	+1	no_errors	NM_017846	genbank	human	validated	54_36p	silent	SNP	0.985	T
CCL8	6355	genome.wustl.edu	37	17	32647889	32647889	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr17:32647889A>T	ENST00000394620.1	+	3	729	c.263A>T	c.(262-264)aAg>aTg	p.K88M		NM_005623.2	NP_005614.2	P80075	CCL8_HUMAN	chemokine (C-C motif) ligand 8	88					calcium ion transport (GO:0006816)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|exocytosis (GO:0006887)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			NS(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Ovarian(249;0.0443)|Breast(31;0.151)				GATTCCATGAAGCATCTGGAC	0.478																																																0			17											69.0	62.0	64.0					17																	32647889		2203	4300	6503	29672002	SO:0001583	missense	6355			X99886	CCDS11280.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108700	ENSG00000108700		"""Chemokine ligands"", ""Endogenous ligands"""	10635	protein-coding gene	gene with protein product		602283	"""small inducible cytokine subfamily A (Cys-Cys), member 8 (monocyte chemotactic protein 2)"""	SCYA8		9119400	Standard	NM_005623		Approved	MCP-2, HC14	uc002hib.3	P80075	OTTHUMG00000132883	ENST00000394620.1:c.263A>T	17.37:g.32647889A>T	ENSP00000378118:p.Lys88Met		29672002	A0AV77|P78388	Missense_Mutation	SNP	HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY,PatternScan_SMALL_CYTOKINES_CC	p.K88M	ENST00000394620.1	37	c.263	CCDS11280.1	17	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761297	0.69763	.	.	ENSG00000108700	ENST00000394620;ENST00000225840	T	0.15834	2.39	5.27	1.79	0.24919	Chemokine interleukin-8-like domain (3);	1.087510	0.07272	N	0.869294	T	0.34048	0.0884	.	.	.	0.09310	N	1	D	0.71674	0.998	D	0.67231	0.95	T	0.11131	-1.0600	9	0.72032	D	0.01	.	4.3968	0.11367	0.6519:0.1693:0.1788:0.0	.	88	P80075	CCL8_HUMAN	M	98;88	ENSP00000378118:K98M	ENSP00000225840:K88M	K	+	2	0	CCL8	29672002	0.012000	0.17670	0.000000	0.03702	0.664000	0.39144	0.604000	0.24164	0.022000	0.15160	0.460000	0.39030	AAG	-	HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY		0.478	CCL8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	CCL8	protein_coding	OTTHUMT00000256376.2	A	NM_005623		29672002	+1	no_errors	NM_005623	genbank	human	reviewed	54_36p	missense	SNP	0.021	T
DPH6	89978	genome.wustl.edu	37	15	35590915	35590915	+	Intron	SNP	G	G	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr15:35590915G>A	ENST00000560386.1	-	3	200							Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										CCCGGAAGCCGTACTTCTGTA	0.602																																																0			15																																								33378207	SO:0001627	intron_variant	0				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000560386.1:c.3238+74806C>T	15.37:g.35590915G>A			33378207	B3KWG1|Q96HJ6	RNA	SNP	-	NULL	ENST00000560386.1	37	NULL		15																																																																																			-	-		0.602	DPH6-003	KNOWN	basic	processed_transcript	LOC100128974	protein_coding	OTTHUMT00000417824.1	G	NM_080650		33378207	-1	pseudogene	XR_038065	genbank	human	model	54_36p	rna	SNP	0.992	A
KRT24	192666	genome.wustl.edu	37	17	38858184	38858184	+	Splice_Site	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr17:38858184A>T	ENST00000264651.2	-	2	673	c.617T>A	c.(616-618)aTc>aAc	p.I206N		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	206	Coil 1B.|Rod.					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)				GGCAGCAATGATCTAAAAAAG	0.388																																					GBM(61;380 1051 14702 23642 31441)											0			17											77.0	70.0	73.0					17																	38858184		2203	4300	6503	36111710	SO:0001630	splice_region_variant	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.616-1T>A	17.37:g.38858184A>T			36111710	Q9NXG7	Missense_Mutation	SNP	HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF	p.I206N	ENST00000264651.2	37	c.617	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	A	16.17	3.048654	0.55110	.	.	ENSG00000167916	ENST00000264651	D	0.91631	-2.88	6.04	4.96	0.65561	Filament (1);	.	.	.	.	D	0.94003	0.8079	M	0.92880	3.355	0.47659	D	0.999484	B	0.27316	0.175	B	0.33196	0.159	D	0.92368	0.5903	9	0.72032	D	0.01	.	12.1377	0.53981	0.8717:0.0:0.0:0.1283	.	206	Q2M2I5	K1C24_HUMAN	N	206	ENSP00000264651:I206N	ENSP00000264651:I206N	I	-	2	0	KRT24	36111710	1.000000	0.71417	0.980000	0.43619	0.970000	0.65996	6.892000	0.75644	1.111000	0.41721	-0.368000	0.07277	ATC	-	HMMPfam_Filament		0.388	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	protein_coding	OTTHUMT00000257217.1	A	NM_019016	Missense_Mutation	36111710	-1	no_errors	NM_019016	genbank	human	validated	54_36p	missense	SNP	1.000	T
PPP1R16B	26051	genome.wustl.edu	37	20	37536564	37536564	+	Missense_Mutation	SNP	C	C	G	rs546796662		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr20:37536564C>G	ENST00000299824.1	+	9	1203	c.1014C>G	c.(1012-1014)agC>agG	p.S338R	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.S296R	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	338					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GGACCTCCAGCGCAGGCAGCC	0.597																																																0			20											46.0	46.0	46.0					20																	37536564		2203	4300	6503	36969978	SO:0001583	missense	26051			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1014C>G	20.37:g.37536564C>G	ENSP00000299824:p.Ser338Arg		36969978	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.S338R	ENST00000299824.1	37	c.1014	CCDS13309.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.80|16.80	3.222975|3.222975	0.58668|0.58668	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.76839	.|-0.46;-1.05	5.02|5.02	-9.22|-9.22	0.00675|0.00675	.|.	.|0.039630	.|0.85682	.|D	.|0.000000	T|T	0.81173|0.81173	0.4767|0.4767	L|L	0.54323|0.54323	1.7|1.7	0.54753|0.54753	D|D	0.999988|0.999988	.|D;D	.|0.89917	.|1.0;0.996	.|D;D	.|0.97110	.|1.0;0.958	D|D	0.86699|0.86699	0.1928|0.1928	5|10	.|0.62326	.|D	.|0.03	.|.	17.1001|17.1001	0.86647|0.86647	0.0:0.4067:0.0:0.5933|0.0:0.4067:0.0:0.5933	.|.	.|296;338	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	G|R	239|338;296	.|ENSP00000299824:S338R;ENSP00000362428:S296R	.|ENSP00000299824:S338R	A|S	+|+	2|3	0|2	PPP1R16B|PPP1R16B	36969978|36969978	0.205000|0.205000	0.23458|0.23458	0.032000|0.032000	0.17829|0.17829	0.767000|0.767000	0.43475|0.43475	-0.302000|-0.302000	0.08221|0.08221	-1.676000|-1.676000	0.01457|0.01457	-1.021000|-1.021000	0.02439|0.02439	GCG|AGC	-	NULL		0.597	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	protein_coding	OTTHUMT00000079220.2	C	NM_015568		36969978	+1	no_errors	NM_015568	genbank	human	reviewed	54_36p	missense	SNP	0.972	G
VWA8	23078	genome.wustl.edu	37	13	42335323	42335323	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr13:42335323C>A	ENST00000379310.3	-	21	2435	c.2367G>T	c.(2365-2367)aaG>aaT	p.K789N	VWA8_ENST00000281496.6_Missense_Mutation_p.K789N	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	789						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGTCAACAATCTTGTTTTTTC	0.358																																																0			13											160.0	157.0	158.0					13																	42335323		2203	4300	6503	41233323	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.2367G>T	13.37:g.42335323C>A	ENSP00000368612:p.Lys789Asn		41233323	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMSmart_SM00382,superfamily_vWA-like,HMMSmart_SM00327	p.K789N	ENST00000379310.3	37	c.2367	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566039	0.65651	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.29397	1.57;1.57	5.63	4.78	0.61160	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.55401	0.1918	M	0.82132	2.575	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.60031	-0.7342	10	0.66056	D	0.02	.	10.7818	0.46382	0.0:0.8455:0.0:0.1545	.	789	A3KMH1	K0564_HUMAN	N	693;789;789	ENSP00000368612:K789N;ENSP00000281496:K789N	ENSP00000251030:K693N	K	-	3	2	KIAA0564	41233323	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.247000	0.43151	1.513000	0.48852	-0.145000	0.13849	AAG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5		0.358	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0564	protein_coding	OTTHUMT00000354828.2	C	NM_015058		41233323	-1	no_errors	NM_015058	genbank	human	validated	54_36p	missense	SNP	1.000	A
DCAF4L1	285429	genome.wustl.edu	37	4	41984081	41984081	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr4:41984081A>C	ENST00000333141.5	+	1	369	c.272A>C	c.(271-273)cAg>cCg	p.Q91P		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	91										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GTAGTGAACCAGGTCGAAGTC	0.532																																																0			4											90.0	80.0	84.0					4																	41984081		2203	4300	6503	41678838	SO:0001583	missense	285429			BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.272A>C	4.37:g.41984081A>C	ENSP00000327796:p.Gln91Pro		41678838	B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320	p.Q91P	ENST00000333141.5	37	c.272	CCDS33978.1	4	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023419	0.35701	.	.	ENSG00000182308	ENST00000333141	T	0.38401	1.14	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.082799	0.85682	D	0.000000	T	0.17450	0.0419	N	0.22421	0.69	0.24431	N	0.994571	B	0.34241	0.444	B	0.19148	0.024	T	0.15723	-1.0427	9	0.72032	D	0.01	.	.	.	.	.	91	Q3SXM0	DC4L1_HUMAN	P	91	ENSP00000327796:Q91P	ENSP00000327796:Q91P	Q	+	2	0	DCAF4L1	41678838	1.000000	0.71417	0.231000	0.23993	0.486000	0.33341	5.090000	0.64498	0.530000	0.28619	0.260000	0.18958	CAG	-	superfamily_WD40 repeat-like		0.532	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR21B	protein_coding	OTTHUMT00000360958.1	A	NM_001029955		41678838	+1	no_errors	NM_001029955	genbank	human	validated	54_36p	missense	SNP	1.000	C
POLB	5423	genome.wustl.edu	37	8	42214856	42214856	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr8:42214856G>C	ENST00000265421.4	+	9	666	c.496G>C	c.(496-498)Gtt>Ctt	p.V166L	POLB_ENST00000538005.1_Missense_Mutation_p.V12L	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	166					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACTAAATGAAGTTAAAAAAGT	0.318								DNA polymerases (catalytic subunits)																																								0			8											70.0	70.0	70.0					8																	42214856		2202	4294	6496	42334013	SO:0001583	missense	5423				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.496G>C	8.37:g.42214856G>C	ENSP00000265421:p.Val166Leu		42334013	B2RC78|Q3KP48|Q6FI34	Missense_Mutation	SNP	superfamily_DNApol_B_N_like,HMMSmart_POLXc,HMMSmart_HhH1,superfamily_DNA_pol_lambd_fingers_domain,HMMPfam_DNA_pol_lambd_f,superfamily_SSF81301,PatternScan_DNA_POLYMERASE_X	p.V166L	ENST00000265421.4	37	c.496	CCDS6129.1	8	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.25|11.25|11.25	1.584318|1.584318|1.584318	0.28268|0.28268|0.28268	.|.|.	.|.|.	ENSG00000070501|ENSG00000070501|ENSG00000070501	ENST00000518579|ENST00000521290|ENST00000265421;ENST00000520008;ENST00000518925;ENST00000538005	.|.|T;T;T;T	.|.|0.39229	.|.|1.09;1.09;1.09;1.59	5.82|5.82|5.82	3.99|3.99|3.99	0.46301|0.46301|0.46301	.|.|DNA-directed DNA polymerase X (1);	.|.|0.189632	.|.|0.47093	.|.|D	.|.|0.000257	T|T|T	0.20414|0.20414|0.20414	0.0491|0.0491|0.0491	N|N|N	0.05280|0.05280|0.05280	-0.08|-0.08|-0.08	0.31075|0.31075|0.31075	N|N|N	0.712585|0.712585|0.712585	.|.|B;B	.|.|0.06786	.|.|0.0;0.001	.|.|B;B	.|.|0.04013	.|.|0.001;0.0	T|T|T	0.12477|0.12477|0.12477	-1.0546|-1.0546|-1.0546	5|5|10	.|.|0.24483	.|.|T	.|.|0.36	-16.7446|-16.7446|-16.7446	9.7943|9.7943|9.7943	0.40726|0.40726|0.40726	0.1665:0.0:0.8335:0.0|0.1665:0.0:0.8335:0.0|0.1665:0.0:0.8335:0.0	.|.|.	.|.|166;166	.|.|Q53EV2;P06746	.|.|.;DPOLB_HUMAN	N|T|L	23|96|166;12;201;12	.|.|ENSP00000265421:V166L;ENSP00000430610:V12L;ENSP00000430784:V201L;ENSP00000440497:V12L	.|.|ENSP00000265421:V166L	K|S|V	+|+|+	3|2|1	2|0|0	POLB|POLB|POLB	42334013|42334013|42334013	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.991000|0.991000|0.991000	0.79684|0.79684|0.79684	1.048000|1.048000|1.048000	0.30379|0.30379|0.30379	1.430000|1.430000|1.430000	0.47334|0.47334|0.47334	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	AAG|AGT|GTT	-	HMMSmart_POLXc,superfamily_SSF81301		0.318	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLB	protein_coding	OTTHUMT00000377242.1	G	NM_002690		42334013	+1	no_errors	NM_002690	genbank	human	provisional	54_36p	missense	SNP	1.000	C
LOXHD1	125336	genome.wustl.edu	37	18	44121818	44121818	+	Nonsense_Mutation	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr18:44121818C>T	ENST00000398722.4	-	18	2999	c.3000G>A	c.(2998-3000)tgG>tgA	p.W1000*	LOXHD1_ENST00000441551.2_Nonsense_Mutation_p.W1072*|LOXHD1_ENST00000579038.1_Nonsense_Mutation_p.W71*|LOXHD1_ENST00000582408.1_Nonsense_Mutation_p.W167*|LOXHD1_ENST00000536736.1_Nonsense_Mutation_p.W1278*|LOXHD1_ENST00000300591.6_Nonsense_Mutation_p.W167*|LOXHD1_ENST00000441893.2_Nonsense_Mutation_p.W211*			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1000	PLAT 7. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						TTTTGGCCAGCCAGCGGCCAC	0.567																																																0			18											90.0	90.0	90.0					18																	44121818		692	1591	2283	42375816	SO:0001587	stop_gained	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.3000G>A	18.37:g.44121818C>T	ENSP00000381707:p.Trp1000*		42375816	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Nonsense_Mutation	SNP	superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308	p.W1000*	ENST00000398722.4	37	c.3000		18	.	.	.	.	.	.	.	.	.	.	C	39	7.462367	0.98299	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000536736;ENST00000441893;ENST00000335730;ENST00000536111	.	.	.	4.85	4.85	0.62838	.	0.326271	0.34110	N	0.004242	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.977	0.89130	0.0:1.0:0.0:0.0	.	.	.	.	X	167;1000;1278;211;1000;180	.	ENSP00000300591:W167X	W	-	3	0	LOXHD1	42375816	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.800000	0.85949	2.236000	0.73375	0.462000	0.41574	TGG	-	superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308		0.567	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	protein_coding		C	NM_144612		42375816	-1	no_errors	ENST00000398722	ensembl	human	known	54_36p	nonsense	SNP	1.000	T
RYR1	6261	genome.wustl.edu	37	19	38964346	38964346	+	Silent	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:38964346A>T	ENST00000359596.3	+	28	4095	c.4095A>T	c.(4093-4095)ggA>ggT	p.G1365G	RYR1_ENST00000360985.3_Silent_p.G1365G|RYR1_ENST00000355481.4_Silent_p.G1365G			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1365	6 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.			GEAQ -> RGA (in Ref. 1; AA sequence). {ECO:0000305}.	calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGGCGGGGGGAGAGGCGCAGC	0.687																																																0			19											2.0	3.0	3.0					19																	38964346		1618	3190	4808	43656186	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.4095A>T	19.37:g.38964346A>T			43656186	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans	p.G1365	ENST00000359596.3	37	c.4095	CCDS33011.1	19																																																																																			-	NULL		0.687	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	protein_coding	OTTHUMT00000462137.1	A			43656186	+1	no_errors	NM_000540	genbank	human	reviewed	54_36p	silent	SNP	0.534	T
IGF2BP1	10642	genome.wustl.edu	37	17	47075262	47075262	+	Missense_Mutation	SNP	A	A	G	rs200362453		TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr17:47075262A>G	ENST00000290341.3	+	1	489	c.155A>G	c.(154-156)aAg>aGg	p.K52R	IGF2BP1_ENST00000515586.1_3'UTR|RP11-501C14.5_ENST00000505903.1_RNA|IGF2BP1_ENST00000431824.2_Missense_Mutation_p.K52R	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	52	RRM 1. {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						TGGGCGATGAAGGCCATCGAA	0.587													A|||	1	0.000199681	0.0	0.0	5008	,	,		12817	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(198;1041 2123 8248 37119 38268)											0			17											91.0	93.0	92.0					17																	47075262		2203	4300	6503	44430261	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.155A>G	17.37:g.47075262A>G	ENSP00000290341:p.Lys52Arg		44430261	C9JT33	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1	p.K52R	ENST00000290341.3	37	c.155	CCDS11543.1	17	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	16.96	3.267347	0.59540	.	.	ENSG00000159217	ENST00000290341;ENST00000431824	T;T	0.08102	3.13;3.13	4.87	3.78	0.43462	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.05044	0.0135	N	0.17922	0.545	0.26207	N	0.979356	B;B	0.31256	0.316;0.023	B;B	0.28991	0.097;0.042	T	0.39333	-0.9619	10	0.17369	T	0.5	-28.3794	9.8911	0.41290	0.9176:0.0:0.0824:0.0	.	52;52	C9JT33;Q9NZI8	.;IF2B1_HUMAN	R	52	ENSP00000290341:K52R;ENSP00000389135:K52R	ENSP00000290341:K52R	K	+	2	0	IGF2BP1	44430261	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.911000	0.69939	1.934000	0.56057	0.528000	0.53228	AAG	-	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1		0.587	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	protein_coding	OTTHUMT00000364046.1	A	NM_006546		44430261	+1	no_errors	NM_006546	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ATP8B4	79895	genome.wustl.edu	37	15	50154499	50154499	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr15:50154499C>A	ENST00000284509.6	-	27	3381	c.3240G>T	c.(3238-3240)atG>atT	p.M1080I	ATP8B4_ENST00000559829.1_Missense_Mutation_p.M1080I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1080						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)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCACCACTGGCATAACTGAAG	0.418																																																0			15											83.0	76.0	78.0					15																	50154499		2196	4295	6491	47941791	SO:0001583	missense	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3240G>T	15.37:g.50154499C>A	ENSP00000284509:p.Met1080Ile		47941791	Q9H727	Missense_Mutation	SNP	superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3	p.M1080I	ENST00000284509.6	37	c.3240	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731202	0.30684	.	.	ENSG00000104043	ENST00000284509	T	0.38077	1.16	5.36	4.44	0.53790	.	0.257343	0.43747	N	0.000539	T	0.26340	0.0643	L	0.29908	0.895	0.32522	N	0.536117	P;B	0.41524	0.753;0.001	B;B	0.39027	0.288;0.002	T	0.31110	-0.9955	10	0.30854	T	0.27	.	11.6159	0.51090	0.0:0.9134:0.0:0.0866	.	158;1080	Q6PG43;Q8TF62	.;AT8B4_HUMAN	I	1080	ENSP00000284509:M1080I	ENSP00000284509:M1080I	M	-	3	0	ATP8B4	47941791	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	1.526000	0.35964	1.258000	0.44101	0.563000	0.77884	ATG	-	superfamily_SSF81665		0.418	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	protein_coding	OTTHUMT00000418100.1	C	NM_024837		47941791	-1	no_errors	NM_024837	genbank	human	validated	54_36p	missense	SNP	1.000	A
HDAC6	10013	genome.wustl.edu	37	X	48682136	48682136	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chrX:48682136G>A	ENST00000334136.5	+	26	3422	c.3244G>A	c.(3244-3246)Gga>Aga	p.G1082R	HDAC6_ENST00000376619.2_Missense_Mutation_p.G1082R|HDAC6_ENST00000444343.2_Missense_Mutation_p.G1096R			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1082					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|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)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AGAGGCAGCTGGAGGTCAGGA	0.562																																					Pancreas(112;205 1675 2305 8976 15959)											0			X											65.0	52.0	56.0					X																	48682136		2203	4300	6503	48567080	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.3244G>A	X.37:g.48682136G>A	ENSP00000334061:p.Gly1082Arg		48567080	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	superfamily_SSF52768,HMMPfam_Hist_deacetyl,HMMSmart_ZnF_UBP,HMMPfam_zf-UBP	p.G1082R	ENST00000334136.5	37	c.3244	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608680	0.66558	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.61040	0.14;0.14;0.14	5.56	5.56	0.83823	.	0.625587	0.14858	N	0.294291	T	0.65375	0.2685	L	0.29908	0.895	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;0.999	T	0.56811	-0.7917	10	0.19590	T	0.45	-14.1823	15.9239	0.79597	0.0:0.0:1.0:0.0	.	1072;445;730;1082	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	R	1096;1082;1082	ENSP00000398566:G1096R;ENSP00000334061:G1082R;ENSP00000365804:G1082R	ENSP00000334061:G1082R	G	+	1	0	HDAC6	48567080	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.427000	0.52785	2.447000	0.82792	0.600000	0.82982	GGA	-	NULL		0.562	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	protein_coding	OTTHUMT00000083394.2	G	NM_006044		48567080	+1	no_errors	NM_006044	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
NEK5	341676	genome.wustl.edu	37	13	52646089	52646089	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr13:52646089G>C	ENST00000355568.4	-	21	2054	c.1915C>G	c.(1915-1917)Cca>Gca	p.P639A		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	639					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CCTGCTTCTGGGCAGTGAAGT	0.398																																																0			13											129.0	123.0	125.0					13																	52646089		2203	4298	6501	51544090	SO:0001583	missense	341676			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1915C>G	13.37:g.52646089G>C	ENSP00000347767:p.Pro639Ala		51544090	Q5TAP5	Missense_Mutation	SNP	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.P639A	ENST00000355568.4	37	c.1915	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	G	3.536	-0.094651	0.07053	.	.	ENSG00000197168	ENST00000355568	T	0.68181	-0.31	5.27	2.34	0.29019	.	1.410070	0.04526	N	0.385555	T	0.62527	0.2435	L	0.56769	1.78	0.22926	N	0.998554	B	0.12013	0.005	B	0.11329	0.006	T	0.41197	-0.9522	10	0.40728	T	0.16	.	5.3296	0.15924	0.203:0.1611:0.6359:0.0	.	639	Q6P3R8	NEK5_HUMAN	A	639	ENSP00000347767:P639A	ENSP00000347767:P639A	P	-	1	0	NEK5	51544090	0.950000	0.32346	0.888000	0.34837	0.295000	0.27426	0.689000	0.25437	0.128000	0.18479	0.557000	0.71058	CCA	-	NULL		0.398	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	protein_coding	OTTHUMT00000045045.3	G	NM_199289		51544090	-1	no_errors	NM_199289	genbank	human	provisional	54_36p	missense	SNP	0.915	C
MRPS23	51649	genome.wustl.edu	37	17	55926658	55926658	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr17:55926658T>C	ENST00000313608.8	-	2	203	c.158A>G	c.(157-159)tAt>tGt	p.Y53C	MRPS23_ENST00000578444.1_Missense_Mutation_p.Y53C	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	53					translation (GO:0006412)	intermediate filament cytoskeleton (GO:0045111)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					GGCTTTGCCATATCGCACTCG	0.577																																																0			17											106.0	88.0	94.0					17																	55926658		2203	4300	6503	53281657	SO:0001583	missense	51649			AB061206	CCDS11598.1	17q22-q23	2012-09-13				ENSG00000181610		"""Mitochondrial ribosomal proteins / small subunits"""	14509	protein-coding gene	gene with protein product		611985				11279123	Standard	NM_016070		Approved	MRP-S23, CGI-138, HSPC329	uc002ivc.3	Q9Y3D9		ENST00000313608.8:c.158A>G	17.37:g.55926658T>C	ENSP00000320184:p.Tyr53Cys		53281657	B2R6V3|Q96Q24|Q9BWH8|Q9P053	Missense_Mutation	SNP	HMMPfam_MRP-S23	p.Y53C	ENST00000313608.8	37	c.158	CCDS11598.1	17	.	.	.	.	.	.	.	.	.	.	T	10.72	1.429818	0.25726	.	.	ENSG00000181610	ENST00000313608	.	.	.	5.86	5.86	0.93980	Ribosomal protein S23/S25, mitochondrial (1);	0.359620	0.32593	N	0.005895	T	0.76905	0.4053	M	0.67953	2.075	0.38422	D	0.9462	D	0.89917	1.0	D	0.75484	0.986	T	0.81084	-0.1093	9	0.87932	D	0	.	13.7783	0.63069	0.0:0.0:0.0:1.0	.	53	Q9Y3D9	RT23_HUMAN	C	53	.	ENSP00000320184:Y53C	Y	-	2	0	MRPS23	53281657	0.994000	0.37717	0.727000	0.30756	0.548000	0.35241	3.322000	0.52007	2.240000	0.73641	0.533000	0.62120	TAT	-	HMMPfam_MRP-S23		0.577	MRPS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS23	protein_coding	OTTHUMT00000443301.1	T	NM_016070		53281657	-1	no_errors	NM_016070	genbank	human	reviewed	54_36p	missense	SNP	0.989	C
LIG1	3978	genome.wustl.edu	37	19	48654585	48654585	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:48654585G>C	ENST00000263274.7	-	7	897	c.478C>G	c.(478-480)Ccg>Gcg	p.P160A	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.P129A|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	160					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTTCTTTCGGGGTCTCCTCT	0.537								Nucleotide excision repair (NER)																																								0			19											98.0	93.0	95.0					19																	48654585		2203	4300	6503	53346397	SO:0001583	missense	3978				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.478C>G	19.37:g.48654585G>C	ENSP00000263274:p.Pro160Ala		53346397	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	HMMPfam_DNA_ligase_A_N,superfamily_DNA ligase/mRNA capping enzyme catalytic domain,HMMPfam_DNA_ligase_A_M,PatternScan_DNA_LIGASE_A1,PatternScan_DNA_LIGASE_A2,HMMPfam_DNA_ligase_A_C	p.P160A	ENST00000263274.7	37	c.478	CCDS12711.1	19	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666078	0.29604	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000542460	T;T;T	0.56776	0.51;0.44;2.1	4.54	3.5	0.40072	.	0.688293	0.15046	N	0.283590	T	0.43523	0.1251	M	0.62723	1.935	0.28048	N	0.933495	P;P	0.43750	0.462;0.816	B;B	0.34093	0.133;0.175	T	0.33420	-0.9869	10	0.26408	T	0.33	-6.2507	10.7182	0.46026	0.0:0.0:0.8086:0.1914	.	129;160	B4DTU4;P18858	.;DNLI1_HUMAN	A	160;191;129;128	ENSP00000263274:P160A;ENSP00000442841:P129A;ENSP00000445928:P128A	ENSP00000263274:P160A	P	-	1	0	LIG1	53346397	0.827000	0.29292	0.188000	0.23233	0.001000	0.01503	2.391000	0.44424	1.232000	0.43678	-0.226000	0.12346	CCG	-	NULL		0.537	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG1	protein_coding	OTTHUMT00000465575.1	G	NM_000234		53346397	-1	no_errors	NM_000234	genbank	human	reviewed	54_36p	missense	SNP	0.199	C
TEAD2	8463	genome.wustl.edu	37	19	49846651	49846651	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:49846651T>A	ENST00000311227.2	-	10	1004	c.914A>T	c.(913-915)gAc>gTc	p.D305V	TEAD2_ENST00000598810.1_Missense_Mutation_p.D309V|TEAD2_ENST00000377214.4_Missense_Mutation_p.D308V|TEAD2_ENST00000601519.1_Missense_Mutation_p.D308V|TEAD2_ENST00000593945.1_Missense_Mutation_p.D309V|TEAD2_ENST00000539846.1_Missense_Mutation_p.D177V	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	305	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		CCAGTTCAGGTCCGCCTGGGA	0.592																																																0			19											63.0	58.0	60.0					19																	49846651		2203	4300	6503	54538463	SO:0001583	missense	8463			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.914A>T	19.37:g.49846651T>A	ENSP00000310701:p.Asp305Val		54538463	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	HMMPfam_TEA,HMMSmart_TEA,PatternScan_TEA_1	p.D305V	ENST00000311227.2	37	c.914	CCDS12761.1	19	.	.	.	.	.	.	.	.	.	.	T	13.69	2.311042	0.40895	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.53423	0.62;0.62;0.62	3.84	2.76	0.32466	.	0.095451	0.41823	D	0.000806	T	0.64182	0.2575	M	0.75150	2.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.992	D;D;D	0.87578	0.996;0.998;0.955	T	0.64232	-0.6456	10	0.87932	D	0	.	8.6559	0.34062	0.0:0.0:0.194:0.8059	.	177;305;308	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	V	305;308;177	ENSP00000310701:D305V;ENSP00000366419:D308V;ENSP00000437928:D177V	ENSP00000310701:D305V	D	-	2	0	TEAD2	54538463	1.000000	0.71417	0.989000	0.46669	0.120000	0.20174	7.463000	0.80869	0.563000	0.29222	0.459000	0.35465	GAC	-	HMMPfam_TEA		0.592	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEAD2	protein_coding	OTTHUMT00000465465.1	T	NM_003598		54538463	-1	no_errors	NM_003598	genbank	human	provisional	54_36p	missense	SNP	1.000	A
RTN4	57142	genome.wustl.edu	37	2	55252965	55252965	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr2:55252965G>A	ENST00000337526.6	-	3	2513	c.2270C>T	c.(2269-2271)cCa>cTa	p.P757L	RTN4_ENST00000357376.3_Missense_Mutation_p.P551L|RTN4_ENST00000394611.2_Missense_Mutation_p.P551L|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.P551L|RTN4_ENST00000404909.1_Missense_Mutation_p.P551L|RTN4_ENST00000354474.6_Missense_Mutation_p.P525L|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	757					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTGTTTTTGTGGAACGTCAGG	0.378																																																0			2											49.0	49.0	49.0					2																	55252965		2203	4299	6502	55106469	SO:0001583	missense	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2270C>T	2.37:g.55252965G>A	ENSP00000337838:p.Pro757Leu		55106469	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	HMMPfam_Reticulon	p.P757L	ENST00000337526.6	37	c.2270	CCDS42684.1	2	.	.	.	.	.	.	.	.	.	.	G	17.02	3.283204	0.59867	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.23754	1.92;1.92;1.89;1.92;1.92;1.96	5.55	5.55	0.83447	.	0.000000	0.64402	D	0.000005	T	0.46405	0.1391	M	0.69823	2.125	0.45250	D	0.99825	D	0.76494	0.999	P	0.61874	0.895	T	0.42699	-0.9436	10	0.62326	D	0.03	-13.5588	12.7988	0.57573	0.0748:0.0:0.9252:0.0	.	757	Q9NQC3	RTN4_HUMAN	L	551;551;757;551;551;525	ENSP00000384471:P551L;ENSP00000349944:P551L;ENSP00000337838:P757L;ENSP00000378109:P551L;ENSP00000385650:P551L;ENSP00000346465:P525L	ENSP00000337838:P757L	P	-	2	0	RTN4	55106469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.541000	0.60670	2.587000	0.87381	0.655000	0.94253	CCA	-	NULL		0.378	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	protein_coding	OTTHUMT00000251484.1	G			55106469	-1	no_errors	NM_020532	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZBTB39	9880	genome.wustl.edu	37	12	57398678	57398678	+	Silent	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr12:57398678T>C	ENST00000300101.2	-	2	109	c.24A>G	c.(22-24)caA>caG	p.Q8Q		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	8					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)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGTTGGTGCTTTGCAGTTTGA	0.507																																																0			12											110.0	97.0	101.0					12																	57398678		2203	4299	6502	55684945	SO:0001819	synonymous_variant	9880			AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.24A>G	12.37:g.57398678T>C			55684945	A7MD38|Q9UD98	Silent	SNP	superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2	p.Q8	ENST00000300101.2	37	c.24	CCDS31839.1	12																																																																																			-	superfamily_POZ domain		0.507	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB39	protein_coding	OTTHUMT00000411214.1	T	NM_014830		55684945	-1	no_errors	NM_014830	genbank	human	provisional	54_36p	silent	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	19	53410392	53410392	+	IGR	SNP	A	A	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr19:53410392A>C								ZNF320 (9446 upstream) : ZNF888 (8056 downstream)																							GCCAGGTGTGAATCATGTCTG	0.393																																																0			19																																								58102204	SO:0001628	intergenic_variant	388559																															19.37:g.53410392A>C			58102204		Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.S377A		37	c.1129		19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	0	0.393					LOC388559			A			58102204	-1	no_errors	XM_496322	genbank	human	model	54_36p	missense	SNP	0.014	C
EYS	346007	genome.wustl.edu	37	6	66044888	66044888	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr6:66044888T>A	ENST00000370621.3	-	11	2277	c.1751A>T	c.(1750-1752)gAa>gTa	p.E584V	EYS_ENST00000503581.1_Missense_Mutation_p.E584V|EYS_ENST00000370616.2_Missense_Mutation_p.E584V|EYS_ENST00000393380.2_Missense_Mutation_p.E584V|EYS_ENST00000370618.3_Missense_Mutation_p.E584V|EYS_ENST00000342421.5_Missense_Mutation_p.E584V			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	584	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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						TCTATTAATTTCATCTTTACA	0.323																																																0			6											155.0	145.0	149.0					6																	66044888		2203	4300	6503	66101609	SO:0001583	missense	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.1751A>T	6.37:g.66044888T>A	ENSP00000359655:p.Glu584Val		66101609	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179	p.E584V	ENST00000370621.3	37	c.1751		6	.	.	.	.	.	.	.	.	.	.	t	11.18	1.562333	0.27915	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;D;D;D	0.81996	1.9;1.9;1.9;-1.56;-1.56;-1.56	3.41	-1.09	0.09904	.	.	.	.	.	T	0.36026	0.0952	N	0.08118	0	0.09310	N	0.999998	B;B;B	0.33318	0.194;0.408;0.286	B;B;B	0.28784	0.031;0.094;0.043	T	0.28459	-1.0043	9	0.27082	T	0.32	.	2.2758	0.04102	0.2475:0.3646:0.0:0.3879	.	584;584;584	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	V	584	ENSP00000424243:E584V;ENSP00000359655:E584V;ENSP00000359650:E584V;ENSP00000377042:E584V;ENSP00000341818:E584V;ENSP00000359652:E584V	ENSP00000341818:E584V	E	-	2	0	EYS	66101609	0.975000	0.34042	0.015000	0.15790	0.481000	0.33189	-0.077000	0.11394	-0.038000	0.13624	-0.415000	0.06103	GAA	-	NULL		0.323	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	T	XM_294050		66101609	-1	no_errors	NM_198283	genbank	human	reviewed	54_36p	missense	SNP	0.972	A
CDH1	999	genome.wustl.edu	37	16	68842726	68842726	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr16:68842726A>T	ENST00000261769.5	+	5	853	c.662A>T	c.(661-663)gAt>gTt	p.D221V	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.D221V	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	221	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGCCTCTGGATAGAGAACGC	0.473			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(2)	breast(2)	16											71.0	67.0	68.0					16																	68842726		2198	4300	6498	67400227	SO:0001583	missense	999	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.662A>T	16.37:g.68842726A>T	ENSP00000261769:p.Asp221Val		67400227	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.D221V	ENST00000261769.5	37	c.662	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	A	10.94	1.493394	0.26774	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.65364	-0.15;-0.15	5.78	5.78	0.91487	Cadherin (5);Cadherin-like (1);	0.000000	0.52532	D	0.000069	D	0.87095	0.6092	H	0.97829	4.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91803	0.5453	10	0.87932	D	0	.	16.0592	0.80826	1.0:0.0:0.0:0.0	.	221;221	Q9UII8;P12830	.;CADH1_HUMAN	V	221	ENSP00000261769:D221V;ENSP00000414946:D221V	ENSP00000261769:D221V	D	+	2	0	CDH1	67400227	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	8.939000	0.92951	2.333000	0.79357	0.533000	0.62120	GAT	-	HMMPfam_Cadherin,superfamily_Cadherin-like,HMMSmart_SM00112		0.473	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	protein_coding	OTTHUMT00000268897.2	A	NM_004360		67400227	+1	no_errors	NM_004360	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
UBA6-AS1	550112	genome.wustl.edu	37	4	68904292	68904292	+	RNA	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr4:68904292C>A	ENST00000500538.2	+	0	1905									UBA6 antisense RNA 1 (head to head)																		CTTCGAGCCCCAAGCTCCCGA	0.627																																																0			4																																								68586887			339970					4q13.2	2014-01-15			ENSG00000248049	ENSG00000248049		"""Long non-coding RNAs"""	49083	non-coding RNA	RNA, long non-coding							Standard	NR_015439		Approved	LOC550112			OTTHUMG00000160769		4.37:g.68904292C>A			68586887		RNA	SNP	-	NULL	ENST00000500538.2	37	NULL		4																																																																																			-	-		0.627	UBA6-AS1-002	KNOWN	basic	antisense	LOC339970	antisense	OTTHUMT00000362199.2	C			68586887	+1	pseudogene	XR_038239	genbank	human	model	54_36p	rna	SNP	0.001	A
CLEC4F	165530	genome.wustl.edu	37	2	71043497	71043497	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr2:71043497T>A	ENST00000272367.2	-	4	1092	c.1016A>T	c.(1015-1017)aAa>aTa	p.K339I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.K339I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	339					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TGTGACCATTTTCAAATCCCT	0.403																																					Colon(107;10 2157 6841 26035)											0			2											88.0	84.0	85.0					2																	71043497		2203	4300	6503	70897005	SO:0001583	missense	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1016A>T	2.37:g.71043497T>A	ENSP00000272367:p.Lys339Ile		70897005	A4QPA5	Missense_Mutation	SNP	PatternScan_C_TYPE_LECTIN_1,superfamily_C-type_lectin_fold	p.K339I	ENST00000272367.2	37	c.1016	CCDS1910.1	2	.	.	.	.	.	.	.	.	.	.	T	10.56	1.385026	0.25031	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	D;D	0.81499	-1.5;-1.5	3.99	1.53	0.23141	.	0.157726	0.29676	N	0.011481	T	0.63200	0.2491	N	0.24115	0.695	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.08055	0.003;0.003	T	0.54556	-0.8276	10	0.66056	D	0.02	.	4.0785	0.09916	0.0:0.1108:0.2112:0.678	.	339;339	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	I	339	ENSP00000272367:K339I;ENSP00000390581:K339I	ENSP00000272367:K339I	K	-	2	0	CLEC4F	70897005	0.341000	0.24801	0.047000	0.18901	0.004000	0.04260	0.807000	0.27140	0.326000	0.23384	0.383000	0.25322	AAA	-	NULL		0.403	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	protein_coding	OTTHUMT00000251922.1	T	NM_173535		70897005	-1	no_errors	NM_173535	genbank	human	validated	54_36p	missense	SNP	0.018	A
MBP	4155	genome.wustl.edu	37	18	74696735	74696735	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr18:74696735T>A	ENST00000397869.3	-	5	708	c.662A>T	c.(661-663)aAg>aTg	p.K221M	RP11-862L9.3_ENST00000580580.1_RNA|MBP_ENST00000397865.5_Missense_Mutation_p.K145M|MBP_ENST00000526111.1_Missense_Mutation_p.K134M|MBP_ENST00000397875.3_Missense_Mutation_p.K166M|MBP_ENST00000355994.2_Missense_Mutation_p.K289M|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000527041.1_Intron|MBP_ENST00000578193.1_Missense_Mutation_p.K156M|MBP_ENST00000359645.3_Missense_Mutation_p.K171M|MBP_ENST00000579129.1_Intron|MBP_ENST00000528160.1_Missense_Mutation_p.S40C|MBP_ENST00000397866.4_Missense_Mutation_p.K156M|MBP_ENST00000580402.1_Missense_Mutation_p.K289M|MBP_ENST00000382582.3_Missense_Mutation_p.K182M|RP11-862L9.3_ENST00000582546.1_RNA|MBP_ENST00000354542.4_Intron			P13727	PRG2_HUMAN	myelin basic protein	0	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)	Sargramostim(DB00020)	CCTTACCAGCTTAAAAATTTT	0.557																																					NSCLC(17;72 1131 19392)											0			18											72.0	75.0	74.0					18																	74696735		2203	4300	6503	72825723	SO:0001583	missense	4155				CCDS12011.1, CCDS32847.1, CCDS42448.1, CCDS42449.1, CCDS42450.1	18q23	2008-08-01			ENSG00000197971	ENSG00000197971			6925	protein-coding gene	gene with protein product		159430				2425357	Standard	XM_005266699		Approved		uc010xfd.2	P02686	OTTHUMG00000132874	ENST00000397869.3:c.662A>T	18.37:g.74696735T>A	ENSP00000380967:p.Lys221Met		72825723	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	HMMPfam_Myelin_MBP,PatternScan_MYELIN_MBP	p.K289M	ENST00000397869.3	37	c.866		18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.04|15.04	2.715941|2.715941	0.48622|0.48622	.|.	.|.	ENSG00000197971|ENSG00000197971	ENST00000382582;ENST00000355994;ENST00000397875;ENST00000397866;ENST00000397865;ENST00000359645;ENST00000397869;ENST00000526111;ENST00000397868;ENST00000447114|ENST00000528160	.|.	.|.	.|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.178133|.	0.35970|.	N|.	0.002862|.	T|T	0.62780|0.62780	0.2456|0.2456	L|L	0.50333|0.50333	1.59|1.59	0.36902|0.36902	D|D	0.890437|0.890437	D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.979;0.997;0.999;0.999|.	T|T	0.71616|0.71616	-0.4539|-0.4539	9|6	0.87932|0.87932	D|D	0|0	-0.0228|-0.0228	11.9271|11.9271	0.52825|0.52825	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	289;145;171;182|.	P02686;P02686-6;P02686-4;P02686-3|.	MBP_HUMAN;.;.;.|.	M|C	182;289;166;156;145;171;221;134;156;100|40	.|.	ENSP00000348273:K289M|ENSP00000436830:S40C	K|S	-|-	2|1	0|0	MBP|MBP	72825723|72825723	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.127000|0.127000	0.20565|0.20565	4.178000|4.178000	0.58284|0.58284	1.745000|1.745000	0.51790|0.51790	0.379000|0.379000	0.24179|0.24179	AAG|AGC	-	HMMPfam_Myelin_MBP		0.557	MBP-024	NOVEL	basic|exp_conf	protein_coding	MBP	protein_coding	OTTHUMT00000267964.1	T	NM_001025081		72825723	-1	no_errors	NM_001025101	genbank	human	reviewed	54_36p	missense	SNP	0.983	A
RASGRF2	5924	genome.wustl.edu	37	5	80504181	80504181	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr5:80504181T>C	ENST00000265080.4	+	22	3147	c.3080T>C	c.(3079-3081)cTt>cCt	p.L1027P	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1027	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGGGAGTTTCTTGGGCAGGGG	0.373																																																0			5											60.0	59.0	59.0					5																	80504181		2203	4300	6503	80539937	SO:0001583	missense	5924			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.3080T>C	5.37:g.80504181T>C	ENSP00000265080:p.Leu1027Pro		80539937	B9EG89|Q9UK56	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF	p.L1027P	ENST00000265080.4	37	c.3080	CCDS4052.1	5	.	.	.	.	.	.	.	.	.	.	T	21.3	4.128673	0.77549	.	.	ENSG00000113319	ENST00000265080	T	0.39406	1.08	5.67	5.67	0.87782	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.117651	0.64402	D	0.000014	T	0.75788	0.3897	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84236	0.0469	10	0.87932	D	0	.	15.5751	0.76373	0.0:0.0:0.0:1.0	.	1027	O14827	RGRF2_HUMAN	P	1027	ENSP00000265080:L1027P	ENSP00000265080:L1027P	L	+	2	0	RASGRF2	80539937	1.000000	0.71417	0.992000	0.48379	0.853000	0.48598	7.950000	0.87804	2.161000	0.67846	0.528000	0.53228	CTT	-	superfamily_Ras GEF,HMMSmart_SM00147,HMMPfam_RasGEF		0.373	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	protein_coding	OTTHUMT00000239215.2	T	NM_006909		80539937	+1	no_errors	NM_006909	genbank	human	validated	54_36p	missense	SNP	1.000	C
LRRIQ1	84125	genome.wustl.edu	37	12	85450734	85450734	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr12:85450734A>T	ENST00000393217.2	+	8	2224	c.2163A>T	c.(2161-2163)gaA>gaT	p.E721D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	721										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGCACCTGAACCTGATAGCA	0.358																																																0			12											191.0	207.0	202.0					12																	85450734		2203	4299	6502	83974865	SO:0001583	missense	84125			AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2163A>T	12.37:g.85450734A>T	ENSP00000376910:p.Glu721Asp		83974865	Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	superfamily_RNI-like,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.E721D	ENST00000393217.2	37	c.2163	CCDS41816.1	12	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174635	0.38413	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.54279	0.58	5.42	-2.03	0.07365	.	0.758889	0.11521	N	0.555714	T	0.34395	0.0896	L	0.36672	1.1	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.12837	0.005;0.008	T	0.24190	-1.0167	10	0.48119	T	0.1	.	2.5747	0.04803	0.3267:0.1227:0.0753:0.4753	.	721;696	Q96JM4;C9JI57	LRIQ1_HUMAN;.	D	721;696;721	ENSP00000376910:E721D	ENSP00000256007:E721D	E	+	3	2	LRRIQ1	83974865	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.095000	0.15127	-0.235000	0.09767	-0.435000	0.05868	GAA	-	superfamily_RNI-like		0.358	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRIQ1	protein_coding	OTTHUMT00000388249.2	A	NM_032165		83974865	+1	no_errors	NM_001079910	genbank	human	validated	54_36p	missense	SNP	0.000	T
C9orf170	401535	genome.wustl.edu	37	9	89763745	89763745	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr9:89763745G>C	ENST00000375941.2	+	1	187	c.100G>C	c.(100-102)Gcc>Ccc	p.A34P		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	34										large_intestine(3)|lung(2)|prostate(1)	6						GAGGAAAGGGGCCTCGCTCGC	0.642																																																0			9											26.0	29.0	28.0					9																	89763745		2202	4299	6501	88953565	SO:0001583	missense	0			AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.100G>C	9.37:g.89763745G>C	ENSP00000365108:p.Ala34Pro		88953565		Missense_Mutation	SNP	NULL	p.A34P	ENST00000375941.2	37	c.100	CCDS35058.1	9	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600034	0.28534	.	.	ENSG00000204446	ENST00000375941	.	.	.	2.99	-2.79	0.05841	.	.	.	.	.	T	0.21468	0.0517	N	0.08118	0	0.09310	N	1	D	0.58268	0.982	P	0.53912	0.737	T	0.20739	-1.0266	8	0.87932	D	0	.	6.1177	0.20136	0.1045:0.0:0.2679:0.6276	.	34	A2RU37	CI170_HUMAN	P	34	.	ENSP00000365108:A34P	A	+	1	0	C9orf170	88953565	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.770000	0.04705	-0.699000	0.05077	-0.230000	0.12252	GCC	-	NULL		0.642	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf170	protein_coding	OTTHUMT00000356346.1	G	NM_001001709		88953565	+1	no_errors	NM_001001709	genbank	human	validated	54_36p	missense	SNP	0.000	C
DCAF4L2	138009	genome.wustl.edu	37	8	88885717	88885717	+	Silent	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr8:88885717C>T	ENST00000319675.3	-	1	579	c.483G>A	c.(481-483)gcG>gcA	p.A161A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	161								p.A161A(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGAACAGCGACGCTGGGAGCA	0.567																																																2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	8											101.0	94.0	96.0					8																	88885717		2203	4300	6503	88954833	SO:0001819	synonymous_variant	138009			AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.483G>A	8.37:g.88885717C>T			88954833		Silent	SNP	PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40	p.A161	ENST00000319675.3	37	c.483	CCDS6245.1	8																																																																																			-	superfamily_WD40_like		0.567	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR21C	protein_coding	OTTHUMT00000375302.1	C	NM_152418		88954833	-1	no_errors	NM_152418	genbank	human	validated	54_36p	silent	SNP	0.988	T
Unknown	0	genome.wustl.edu	37	7	97512847	97512847	+	IGR	SNP	T	T	C	rs79345587	byFrequency	TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr7:97512847T>C								ASNS (10993 upstream) : AC079781.1 (22436 downstream)																							caccatcacctccagctgttt	0.512													.|||	1088	0.217252	0.1755	0.2522	5008	,	,		18810	0.3353		0.0954	False		,,,				2504	0.2526															0			7																																								97350783	SO:0001628	intergenic_variant	0																															7.37:g.97512847T>C			97350783		RNA	SNP	-	NULL		37	NULL		7																																																																																			-	-	0	0.512					LOC100132737			T			97350783	+1	pseudogene	XR_039349	genbank	human	model	54_36p	rna	SNP	0.029	C
SRRT	51593	genome.wustl.edu	37	7	100479699	100479699	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr7:100479699C>A	ENST00000347433.4	+	5	582	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	SRRT_ENST00000432932.1_Missense_Mutation_p.L142M|SRRT_ENST00000457580.2_Missense_Mutation_p.L142M|SRRT_ENST00000388793.4_Missense_Mutation_p.L142M			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	142					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAGATTGACCTGGGTGTGCC	0.597																																																0			7											93.0	90.0	91.0					7																	100479699		2203	4300	6503	100317635	SO:0001583	missense	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.424C>A	7.37:g.100479699C>A	ENSP00000314491:p.Leu142Met		100317635	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Missense_Mutation	SNP	HMMPfam_ARS2	p.L142M	ENST00000347433.4	37	c.424	CCDS34709.1	7	.	.	.	.	.	.	.	.	.	.	C	4.846	0.157322	0.09236	.	.	ENSG00000087087	ENST00000457580;ENST00000388793;ENST00000539682;ENST00000432932;ENST00000347433	.	.	.	4.77	-4.63	0.03359	.	0.000000	0.53938	D	0.000056	T	0.37376	0.1001	L	0.40543	1.245	0.42695	D	0.993592	P;P;P;P	0.50943	0.94;0.94;0.94;0.901	B;B;B;B	0.44108	0.441;0.441;0.441;0.256	T	0.34378	-0.9831	9	0.46703	T	0.11	.	7.9604	0.30068	0.1166:0.537:0.0:0.3464	.	142;142;142;142	Q9BXP5-3;Q9BXP5-4;Q9BXP5-2;Q9BXP5	.;.;.;SRRT_HUMAN	M	142;142;57;142;142	.	ENSP00000314491:L142M	L	+	1	2	SRRT	100317635	0.026000	0.19158	0.667000	0.29798	0.011000	0.07611	0.020000	0.13466	-1.176000	0.02747	-0.311000	0.09066	CTG	-	NULL		0.597	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	protein_coding	OTTHUMT00000347168.1	C	NM_015908		100317635	+1	no_errors	NM_015908	genbank	human	validated	54_36p	missense	SNP	0.986	A
KMT2E	55904	genome.wustl.edu	37	7	104747164	104747164	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr7:104747164A>G	ENST00000311117.3	+	20	3337	c.2792A>G	c.(2791-2793)tAt>tGt	p.Y931C	CTB-152G17.6_ENST00000607968.1_RNA|KMT2E_ENST00000334877.4_Missense_Mutation_p.Y931C|KMT2E_ENST00000334914.7_5'UTR|KMT2E_ENST00000257745.4_Missense_Mutation_p.Y931C	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	931					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AAACCCATATATTCACCAGTT	0.408																																																0			7											110.0	118.0	115.0					7																	104747164		2203	4300	6503	104534400	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.2792A>G	7.37:g.104747164A>G	ENSP00000312379:p.Tyr931Cys		104534400	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain	p.Y931C	ENST00000311117.3	37	c.2792	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905713	0.52333	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93488	-3.23;-2.78;-3.23	5.34	5.34	0.76211	.	0.083397	0.49305	D	0.000147	D	0.93423	0.7902	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	P	0.62885	0.908	D	0.94268	0.7508	10	0.59425	D	0.04	.	15.3077	0.74004	1.0:0.0:0.0:0.0	.	931	Q8IZD2	MLL5_HUMAN	C	931;931;931;851;931	ENSP00000312379:Y931C;ENSP00000335599:Y931C;ENSP00000257745:Y931C	ENSP00000257745:Y931C	Y	+	2	0	MLL5	104534400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.414000	0.73318	2.015000	0.59207	0.477000	0.44152	TAT	-	NULL		0.408	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	protein_coding	OTTHUMT00000348697.1	A			104534400	+1	no_errors	NM_018682	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
MED13L	23389	genome.wustl.edu	37	12	116452960	116452960	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr12:116452960C>T	ENST00000281928.3	-	8	1335	c.1129G>A	c.(1129-1131)Gtc>Atc	p.V377I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	377						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTCGATGGACCATATGATTG	0.453																																																0			12											235.0	209.0	218.0					12																	116452960		2203	4300	6503	114937343	SO:0001583	missense	23389			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.1129G>A	12.37:g.116452960C>T	ENSP00000281928:p.Val377Ile		114937343	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	HMMPfam_TRAP_240kDa	p.V377I	ENST00000281928.3	37	c.1129	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154699	0.78114	.	.	ENSG00000123066	ENST00000281928	T	0.77358	-1.09	5.88	5.88	0.94601	Mediator complex, subunit Med13, N-terminal, metazoa/fungi (1);	0.057254	0.64402	D	0.000001	T	0.77110	0.4082	M	0.74881	2.28	0.42620	D	0.993345	B	0.14438	0.01	B	0.16289	0.015	T	0.71669	-0.4523	10	0.33141	T	0.24	.	14.3828	0.66923	0.0:0.9296:0.0:0.0704	.	377	Q71F56	MD13L_HUMAN	I	377	ENSP00000281928:V377I	ENSP00000281928:V377I	V	-	1	0	MED13L	114937343	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.390000	0.59646	2.781000	0.95711	0.591000	0.81541	GTC	-	NULL		0.453	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	protein_coding	OTTHUMT00000403879.3	C			114937343	-1	no_errors	NM_015335	genbank	human	validated	54_36p	missense	SNP	1.000	T
ATG12	9140	genome.wustl.edu	37	5	115177311	115177311	+	5'UTR	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr5:115177311C>A	ENST00000509910.1	-	0	244				AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000274459.4_Missense_Mutation_p.R27I|ATG12_ENST00000500945.2_5'Flank			O94817	ATG12_HUMAN	autophagy related 12						autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		GCGTGCTTTTCTCCAGGGAGC	0.577																																																0			5											87.0	100.0	96.0					5																	115177311		2202	4300	6502	115205210	SO:0001623	5_prime_UTR_variant	9140			AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.-62G>T	5.37:g.115177311C>A			115205210	Q6PJV2	Missense_Mutation	SNP	HMMPfam_APG12,superfamily_SSF54236	p.R27I	ENST00000509910.1	37	c.80	CCDS4122.2	5	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202906	0.38905	.	.	ENSG00000145782	ENST00000274459	.	.	.	4.45	-6.13	0.02118	.	2.854430	0.01887	N	0.038247	T	0.24392	0.0591	.	.	.	0.20196	N	0.999928	B	0.17038	0.02	B	0.09377	0.004	T	0.13229	-1.0517	8	0.87932	D	0	-9.7265	0.2309	0.00180	0.3549:0.2121:0.1902:0.2427	.	27	C1IDX9	.	I	27	.	ENSP00000274459:R27I	R	-	2	0	ATG12	115205210	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.118000	0.01325	-1.064000	0.03172	-0.274000	0.10170	AGA	-	NULL		0.577	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG12	protein_coding	OTTHUMT00000250851.3	C	NM_004707		115205210	-1	no_errors	NM_004707	genbank	human	validated	54_36p	missense	SNP	0.000	A
TBX15	6913	genome.wustl.edu	37	1	119474281	119474281	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:119474281T>C	ENST00000369429.3	-	2	389	c.380A>G	c.(379-381)cAt>cGt	p.H127R	TBX15_ENST00000207157.3_Missense_Mutation_p.H21R			Q96SF7	TBX15_HUMAN	T-box 15	127					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	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)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCCAATATCATGGAACCGCTT	0.507																																																0			1											101.0	90.0	94.0					1																	119474281		2203	4300	6503	119275804	SO:0001583	missense	6913			AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.380A>G	1.37:g.119474281T>C	ENSP00000358437:p.His127Arg		119275804	Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2	p.H21R	ENST00000369429.3	37	c.62		1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.408776	0.83340	.	.	ENSG00000092607	ENST00000207157;ENST00000369429	D;D	0.81499	-1.5;-1.5	5.97	5.97	0.96955	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.096998	0.64402	D	0.000001	D	0.89891	0.6846	M	0.88512	2.96	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.91795	0.5447	10	0.87932	D	0	.	16.4534	0.84003	0.0:0.0:0.0:1.0	.	127	Q96SF7	TBX15_HUMAN	R	21;127	ENSP00000207157:H21R;ENSP00000358437:H127R	ENSP00000207157:H21R	H	-	2	0	TBX15	119275804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.641000	0.83368	2.285000	0.76669	0.477000	0.44152	CAT	-	superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1		0.507	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	TBX15	protein_coding	OTTHUMT00000034351.1	T	NM_152380		119275804	-1	no_errors	NM_152380	genbank	human	validated	54_36p	missense	SNP	1.000	C
ADAMTS13	11093	genome.wustl.edu	37	9	136302926	136302926	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr9:136302926G>A	ENST00000371929.3	+	13	1937	c.1493G>A	c.(1492-1494)cGt>cAt	p.R498H	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R467H|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R498H|ADAMTS13_ENST00000536611.1_Missense_Mutation_p.R170H|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	498	Cysteine-rich.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATCATGAAGCGTGGAGACAGC	0.627																																																0			9											93.0	90.0	91.0					9																	136302926		2203	4300	6503	135292747	SO:0001583	missense	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.1493G>A	9.37:g.136302926G>A	ENSP00000360997:p.Arg498His		135292747	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Spermadhesin CUB domain"	p.R498H	ENST00000371929.3	37	c.1493	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	G	21.9	4.223301	0.79464	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589;ENST00000536611	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.42	5.42	0.78866	.	.	.	.	.	T	0.76702	0.4024	L	0.41906	1.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.986;0.994;0.976	T	0.78550	-0.2161	9	0.72032	D	0.01	.	18.217	0.89889	0.0:0.0:1.0:0.0	.	498;467;498	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	H	498;498;467;170	ENSP00000360997:R498H;ENSP00000347927:R498H;ENSP00000348997:R467H;ENSP00000444504:R170H	ENSP00000347927:R498H	R	+	2	0	ADAMTS13	135292747	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	6.288000	0.72679	2.535000	0.85469	0.655000	0.94253	CGT	-	NULL		0.627	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	protein_coding	OTTHUMT00000054920.1	G	NM_139025		135292747	+1	no_errors	NM_139025	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
AFF2	2334	genome.wustl.edu	37	X	148044409	148044409	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chrX:148044409C>A	ENST00000370460.2	+	13	3334	c.2855C>A	c.(2854-2856)aCc>aAc	p.T952N	AFF2_ENST00000286437.5_Missense_Mutation_p.T593N|AFF2_ENST00000342251.3_Missense_Mutation_p.T919N|AFF2_ENST00000370457.5_Missense_Mutation_p.T919N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	952					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)					ATCACATCTACCAAACCTAAG	0.428																																																0			X											103.0	90.0	94.0					X																	148044409		2203	4300	6503	147852105	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.2855C>A	X.37:g.148044409C>A	ENSP00000359489:p.Thr952Asn		147852105	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	HMMPfam_AF-4	p.T952N	ENST00000370460.2	37	c.2855	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	5.673	0.308763	0.10733	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.87	2.02	0.26589	.	0.875311	0.09943	N	0.735728	T	0.47432	0.1445	L	0.31065	0.9	0.09310	N	0.999998	B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.001;0.001	B;B;B;B;B;B	0.09377	0.004;0.001;0.001;0.001;0.003;0.004	T	0.28650	-1.0037	10	0.20519	T	0.43	.	9.503	0.39028	0.3737:0.3891:0.2372:0.0	.	593;917;919;913;942;952	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	N	952;919;919;593	ENSP00000359489:T952N;ENSP00000359486:T919N;ENSP00000345459:T919N;ENSP00000286437:T593N	ENSP00000286437:T593N	T	+	2	0	AFF2	147852105	0.050000	0.20438	0.140000	0.22221	0.215000	0.24574	0.836000	0.27545	0.030000	0.15379	-0.922000	0.02736	ACC	-	HMMPfam_AF-4		0.428	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	C	NM_002025		147852105	+1	no_errors	NM_002025	genbank	human	validated	54_36p	missense	SNP	0.047	A
MAMLD1	10046	genome.wustl.edu	37	X	149639721	149639721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chrX:149639721C>T	ENST00000370401.2	+	4	2186	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	MAMLD1_ENST00000455522.2_Nonsense_Mutation_p.R107*|MAMLD1_ENST00000426613.2_Nonsense_Mutation_p.R601*|MAMLD1_ENST00000262858.5_Nonsense_Mutation_p.R626*|MAMLD1_ENST00000432680.2_Nonsense_Mutation_p.R601*			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	626					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCGTTTTCAGCGATCAGTGGC	0.507																																																0			X											107.0	93.0	98.0					X																	149639721		2203	4300	6503	149390379	SO:0001587	stop_gained	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1876C>T	X.37:g.149639721C>T	ENSP00000359428:p.Arg626*		149390379	B2RCQ4|B4DG93|B9EGA5	Nonsense_Mutation	SNP	NULL	p.R626*	ENST00000370401.2	37	c.1876	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	C	34	5.408364	0.96051	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	.	.	.	5.34	3.43	0.39272	.	0.289104	0.27876	N	0.017481	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5916	12.6486	0.56748	0.4769:0.5231:0.0:0.0	.	.	.	.	X	498;626;601;626;601;107	.	ENSP00000262858:R626X	R	+	1	2	MAMLD1	149390379	1.000000	0.71417	0.049000	0.19019	0.224000	0.24922	1.714000	0.37961	1.008000	0.39264	0.544000	0.68410	CGA	-	NULL		0.507	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	protein_coding	OTTHUMT00000060844.2	C	NM_005491		149390379	+1	no_errors	NM_005491	genbank	human	validated	54_36p	nonsense	SNP	0.795	T
DPT	1805	genome.wustl.edu	37	1	168698375	168698375	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:168698375A>T	ENST00000367817.3	-	1	127	c.38T>A	c.(37-39)gTc>gAc	p.V13D		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	13					cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					GGCCATGGTGACTAGGGGCAG	0.502																																																0			1											49.0	44.0	46.0					1																	168698375		2203	4300	6503	166964999	SO:0001583	missense	1805			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.38T>A	1.37:g.168698375A>T	ENSP00000356791:p.Val13Asp		166964999	A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	NULL	p.V13D	ENST00000367817.3	37	c.38	CCDS1275.1	1	.	.	.	.	.	.	.	.	.	.	A	8.977	0.974490	0.18736	.	.	ENSG00000143196	ENST00000367817	T	0.53206	0.63	5.08	1.55	0.23275	.	0.470845	0.23437	N	0.048195	T	0.21590	0.0520	L	0.44542	1.39	0.37592	D	0.920237	B	0.21753	0.06	B	0.28709	0.093	T	0.07578	-1.0765	9	0.72032	D	0.01	-15.4916	8.3354	0.32211	0.7654:0.0:0.2346:0.0	.	13	Q07507	DERM_HUMAN	D	13	ENSP00000356791:V13D	ENSP00000356791:V13D	V	-	2	0	DPT	166964999	0.900000	0.30661	0.007000	0.13788	0.377000	0.30045	2.235000	0.43044	0.278000	0.22164	0.533000	0.62120	GTC	-	NULL		0.502	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPT	protein_coding	OTTHUMT00000083618.1	A	NM_001937		166964999	-1	no_errors	NM_001937	genbank	human	reviewed	54_36p	missense	SNP	0.374	T
OR2Y1	134083	genome.wustl.edu	37	5	180166171	180166171	+	Silent	SNP	C	C	A			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr5:180166171C>A	ENST00000307832.2	-	1	928	c.888G>T	c.(886-888)gtG>gtT	p.V296V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	296						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(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCCCCCTTCACGTCCTTGT	0.403																																																0			5											91.0	101.0	98.0					5																	180166171		2203	4300	6503	180098777	SO:0001819	synonymous_variant	134083			AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.888G>T	5.37:g.180166171C>A			180098777	B9EIP1|Q6IFB1|Q96R16	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.V296	ENST00000307832.2	37	c.888	CCDS34323.1	5																																																																																			-	superfamily_SSF81321		0.403	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2Y1	protein_coding	OTTHUMT00000368059.2	C	XM_068682		180098777	-1	no_errors	NM_001001657	genbank	human	provisional	54_36p	silent	SNP	0.627	A
NFASC	23114	genome.wustl.edu	37	1	204956572	204956572	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:204956572G>C	ENST00000401399.1	+	21	2696	c.2497G>C	c.(2497-2499)Gtc>Ctc	p.V833L	NFASC_ENST00000338586.6_Missense_Mutation_p.V940L|NFASC_ENST00000367169.4_Missense_Mutation_p.V833L|NFASC_ENST00000338515.6_Missense_Mutation_p.V940L|NFASC_ENST00000339876.6_Missense_Mutation_p.V833L|NFASC_ENST00000404907.1_Missense_Mutation_p.V936L|NFASC_ENST00000539706.1_Missense_Mutation_p.V936L|NFASC_ENST00000360049.4_Missense_Mutation_p.V936L|NFASC_ENST00000367171.4_Missense_Mutation_p.V925L|NFASC_ENST00000404076.1_Missense_Mutation_p.V919L|NFASC_ENST00000513543.1_Missense_Mutation_p.V936L|NFASC_ENST00000367172.4_Missense_Mutation_p.V940L|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367170.4_Missense_Mutation_p.V940L			O94856	NFASC_HUMAN	neurofascin	834	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GCGTTTCCGAGTCCGGCAGCC	0.532																																																0			1											113.0	93.0	100.0					1																	204956572		2203	4300	6503	203223195	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.2497G>C	1.37:g.204956572G>C	ENSP00000385637:p.Val833Leu		203223195	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	HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3	p.V936L	ENST00000401399.1	37	c.2806	CCDS53460.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.934|9.934	1.215667|1.215667	0.22373|0.22373	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173;ENST00000425360|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.59638	.|0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25;0.25	5.57|5.57	4.66|4.66	0.58398|0.58398	.|Fibronectin, type III (5);Immunoglobulin-like fold (1);	.|0.143577	.|0.31577	.|N	.|0.007407	T|T	0.39436|0.39436	0.1078|0.1078	N|N	0.25647|0.25647	0.755|0.755	0.50039|0.50039	D|D	0.999848|0.999848	.|P;P;B;B;B;P;B	.|0.43231	.|0.662;0.511;0.158;0.008;0.226;0.801;0.019	.|B;B;B;B;B;B;B	.|0.37550	.|0.253;0.192;0.07;0.01;0.164;0.194;0.033	T|T	0.17471|0.17471	-1.0368|-1.0368	5|10	.|0.24483	.|T	.|0.36	.|.	9.4776|9.4776	0.38880|0.38880	0.2042:0.0:0.7958:0.0|0.2042:0.0:0.7958:0.0	.|.	.|940;951;936;833;925;833;936	.|O94856;O94856-11;O94856-8;O94856-4;F8W791;O94856-9;O94856-3	.|NFASC_HUMAN;.;.;.;.;.;.	D|L	802;64|940;925;940;940;833;940;951;936;936;833;919;833;936;936;927	.|ENSP00000356140:V940L;ENSP00000356139:V925L;ENSP00000356138:V940L;ENSP00000342128:V940L;ENSP00000344786:V833L;ENSP00000343509:V940L;ENSP00000438614:V936L;ENSP00000353154:V936L;ENSP00000356137:V833L;ENSP00000385676:V919L;ENSP00000385637:V833L;ENSP00000384061:V936L;ENSP00000425908:V936L;ENSP00000415031:V927L	.|ENSP00000295776:V951L	E|V	+|+	3|1	2|0	NFASC|NFASC	203223195|203223195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.000000|0.000000	0.00434|0.00434	5.002000|5.002000	0.63952|0.63952	1.367000|1.367000	0.46095|0.46095	-0.218000|-0.218000	0.12543|0.12543	GAG|GTC	-	superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3		0.532	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	protein_coding	OTTHUMT00000131237.1	G	NM_001005388		203223195	+1	no_errors	NM_015090	genbank	human	validated	54_36p	missense	SNP	0.995	C
USH2A	7399	genome.wustl.edu	37	1	216348797	216348797	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:216348797A>T	ENST00000307340.3	-	21	4810	c.4424T>A	c.(4423-4425)gTt>gAt	p.V1475D	USH2A_ENST00000366942.3_Missense_Mutation_p.V1475D|USH2A_ENST00000366943.2_Missense_Mutation_p.V1475D	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1475					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)		GATTCCTTTAACCAGAGGTGG	0.408										HNSCC(13;0.011)																																						0			1											125.0	115.0	118.0					1																	216348797		2203	4300	6503	214415420	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.4424T>A	1.37:g.216348797A>T	ENSP00000305941:p.Val1475Asp		214415420	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2	p.V1475D	ENST00000307340.3	37	c.4424	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.465383	0.43839	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.58358	0.34;0.34;0.34	5.38	3.1	0.35709	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.185781	0.25514	U	0.030155	T	0.60521	0.2275	M	0.61703	1.905	0.20307	N	0.999919	D;D	0.58970	0.984;0.966	P;P	0.59056	0.851;0.691	T	0.49899	-0.8890	10	0.39692	T	0.17	.	8.3448	0.32266	0.7787:0.0:0.2213:0.0	.	1475;1475	O75445-2;O75445	.;USH2A_HUMAN	D	1475	ENSP00000305941:V1475D;ENSP00000355910:V1475D;ENSP00000355909:V1475D	ENSP00000305941:V1475D	V	-	2	0	USH2A	214415420	0.005000	0.15991	0.001000	0.08648	0.236000	0.25371	2.078000	0.41567	0.876000	0.35872	0.445000	0.29226	GTT	-	superfamily_Concanavalin A-like lectins/glucanases,superfamily_Fibronectin type III		0.408	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	protein_coding	OTTHUMT00000128138.1	A	NM_007123		214415420	-1	no_errors	NM_206933	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
LEFTY1	10637	genome.wustl.edu	37	1	226076589	226076589	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:226076589G>T	ENST00000272134.5	-	1	257	c.178C>A	c.(178-180)Cag>Aag	p.Q60K	RP4-559A3.7_ENST00000432920.2_Intron|LEFTY1_ENST00000492457.1_Intron	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	60					cell growth (GO:0016049)|determination of left/right symmetry (GO:0007368)|heart morphogenesis (GO:0003007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					GCCACGTACTGGGCCCTCACG	0.697																																																0			1											31.0	33.0	33.0					1																	226076589		2203	4299	6502	224143212	SO:0001583	missense	10637			AF081507	CCDS1548.1	1q42.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000243709	ENSG00000243709			6552	protein-coding gene	gene with protein product		603037	"""left-right determination, factor B"""	LEFTB		10053005, 10886363	Standard	NM_020997		Approved	LEFTYB	uc001hpo.3	O75610	OTTHUMG00000037443	ENST00000272134.5:c.178C>A	1.37:g.226076589G>T	ENSP00000272134:p.Gln60Lys		224143212	B2R7U0|Q53H67|Q5TE94	Missense_Mutation	SNP	HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1	p.Q60K	ENST00000272134.5	37	c.178	CCDS1548.1	1	.	.	.	.	.	.	.	.	.	.	g	0.013	-1.633006	0.00806	.	.	ENSG00000243709	ENST00000272134	T	0.65549	-0.16	4.18	1.92	0.25849	Transforming growth factor-beta, N-terminal (1);	0.209959	0.48767	D	0.000167	T	0.40839	0.1133	L	0.34521	1.04	0.25349	N	0.988884	B;B	0.13145	0.007;0.007	B;B	0.15870	0.014;0.014	T	0.14587	-1.0467	10	0.07644	T	0.81	.	6.5142	0.22239	0.0:0.1656:0.5211:0.3134	.	60;60	B2R7U0;O75610	.;LFTY1_HUMAN	K	60	ENSP00000272134:Q60K	ENSP00000272134:Q60K	Q	-	1	0	LEFTY1	224143212	1.000000	0.71417	1.000000	0.80357	0.028000	0.11728	1.670000	0.37502	1.895000	0.54865	0.313000	0.20887	CAG	-	HMMPfam_TGFb_propeptide		0.697	LEFTY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEFTY1	protein_coding	OTTHUMT00000091155.1	G	NM_020997		224143212	-1	no_errors	NM_020997	genbank	human	reviewed	54_36p	missense	SNP	0.977	T
CHRM3	1131	genome.wustl.edu	37	1	240070820	240070820	+	Silent	SNP	C	C	T			TCGA-42-2590-01A-01D-1526-09	TCGA-42-2590-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f59c1c10-22f7-4df7-91f5-4b3c2bfee848	6d4a192d-8d95-48d0-8eb7-e795beae9f29	g.chr1:240070820C>T	ENST00000255380.4	+	5	848	c.69C>T	c.(67-69)agC>agT	p.S23S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	23					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|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)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GGATACACAGCCCCTCCGATG	0.537																																																0			1											71.0	69.0	70.0					1																	240070820		2203	4300	6503	238137443	SO:0001819	synonymous_variant	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.69C>T	1.37:g.240070820C>T			238137443	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S23	ENST00000255380.4	37	c.69	CCDS1616.1	1																																																																																			-	NULL		0.537	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	protein_coding	OTTHUMT00000095644.2	C	NM_000740		238137443	+1	no_errors	NM_000740	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
